Leaders from Rare Ventures and members of the rare disease community, including EB (epidermolysis bullosa), rang the opening bell at the New York Stock Exchange today including members of the Carnegie Mellon University community.

The milestone comes about a month after Carnegie Mellon joined Rare Ventures as a founding partner in the Pittsburgh-based initiative, which aims to transform how therapies for rare diseases are discovered, developed and delivered to patients.

“There are 10,000 rare diseases affecting 400 million people around the world, yet 95% without approved treatments — and behind every statistic is a person. Rare Ventures was created because we believe the way the world develops treatments for rare diseases can — and must — be better,” said Michael Hund, CEO of EB Research Partnership and Founder of Rare Ventures. “We are bringing together philanthropy, science, medicine, technology, artificial intelligence, entrepreneurship and investment around one goal: turning promising science into treatments and cures, faster.”

Developing therapies is particularly challenging because patient populations are small, data is often fragmented and the path from scientific discovery to approved treatment can be long and costly.

Backed by a commitment of up to $25 million from the Richard King Mellon Foundation, Rare Ventures unites EBRP, founded by Jill Vedder and Eddie Vedder of Pearl Jam, with Carnegie Mellon, the University of Pittsburgh Health Sciences, UPMC Children's Hospital of Pittsburgh, UPMC Vision Institute, Stanford Medicine and ElevateBio.

“Our hope is that our collective efforts will advance treatments and cures for seven rare diseases, and that those might result in the formation of new companies that will eventually find themselves at the New York Stock Exchange to ring the opening bell,” said Sam Reiman, director and trustee of the Richard King Mellon Foundation. “But we have no intention of stopping there. Let’s plan to come back to ring the bell 20, 50, 10,000 times for rare-disease companies. Let’s ring the bell so often for rare-disease treatments and cures that it cracks.”

Rare Ventures is headquartered in Pittsburgh because of the region's concentration of strengths in artificial intelligence, life sciences, clinical research, advanced manufacturing and translational medicine. It builds on EBRP’s longstanding approach to venture philanthropy, in which philanthropic funding is strategically invested in promising research with the potential to become commercialized treatments. Returns from those investments can then be reinvested into additional research, creating a more sustainable cycle of innovation.

“We are bringing together philanthropy, science, medicine, technology, artificial intelligence, entrepreneurship and investment around one goal: turning promising science into treatments and cures, faster.”

Michael Hund

Carnegie Mellon’s role

As the technology core of Rare Ventures, Carnegie Mellon will apply its expertise in artificial intelligence, computational biology, automated science and advanced therapeutics across every stage of the drug development process.

Finding a treatment for any disease requires scientists to understand disease biology, identify therapeutic targets, design potential therapies and develop ways to deliver them to the right cells in the body. CMU researchers will work alongside clinical and industry partners to accelerate those steps and shorten the path from scientific discovery to patient impact.

Carnegie Mellon's Barbara Shinn-Cunningham, Glen de Vries Dean of the Mellon College of Science; Russell Schwartz, professor of computational biology; and Andreas Pfenning, associate professor of computational biology, joined Rare Ventures partners and families affected by rare diseases in New York City.

“Meeting some of the families who could benefit from this work instilled an even deeper passion for this project. Their stories underscore what's at stake and why we must move faster,” Shinn-Cunningham said. "Rare Ventures' model will accelerate the journey from basic science to meaningful treatments, bringing the promise of research to patients' lives far more quickly.”

University infrastructure including the AI Science Foundry and the new Richard King Mellon Hall of Sciences will help connect researchers across life sciences and AI disciplines, creating opportunities to accelerate scientific breakthroughs. Work through Rare Ventures will complement CMU's Helix Foundry initiative, which will use automated chemistry to create and test libraries of nucleic acid therapeutics.

“There is work on individual rare diseases and those play a really important role, but if we’re going to tackle the problem more broadly, you have to think about platforms, both new AI technologies and also the bench side of things, to solve these problems,” Pfenning said. “I got a sense of the scale that will be required to accelerate these processes and cure rare disorders.”

Across biological sciences, chemistry, chemical engineering, mechanical engineering and computational biology, Carnegie Mellon researchers are already combining AI, automation and experimental science to speed discovery. Current university efforts include:

• Developing a new deep learning method, KGWAS, that improves the detection of genetic variants and associated traits for rare diseases, potentially enabling the discovery of new drugs or treatments.

• Using AI to computationally screen thousands of possible chemical structures to identify potential drug candidates for treating rare diseases.

• Studying pyruvate dehydrogenase complex (PDC) disease, a rare disorder that makes it difficult for the body to turn food into energy. By identifying the genetic mutations that cause the disease, they hope to develop molecules that restore normal protein function.

• Working on diverse methods for delivering therapeutic nucleic acids to specific tissues and cells. Having options increases the likelihood of finding an effective treatment.

• Developing at home tests for cancer screening.

• Studying the regulation and function of a key gene usually deleted in patients with Prader-Willi syndrome, a genetic condition that causes chronic hunger, growth hormone deficiency and behavior challenges.

• Carnegie Mellon researchers will work closely with clinicians at UPMC, UPMC Children's Hospital and Stanford Medicine, helping move promising technologies from the laboratory toward clinical testing while developing the next generation of therapies and delivery systems.